RAB5B

Chr 12

RAB5B, member RAS oncogene family

NCBI Gene: 5869ENSG00000111540UniProt: P61020

Enables GDP binding activity; GTP-dependent protein binding activity; and GTPase activity. Involved in antigen processing and presentation and plasma membrane to endosome transport. Located in endosome and extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.026
Z-score 2.23
OE 0.36 (0.19–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.32Z-score
OE missense 0.67 (0.56–0.80)
82 obs / 123.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.19–0.75)
0≤0.351.4
Missense OE?0.67 (0.56–0.80)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 5 / 14.0Missense obs/exp: 82 / 123.2Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAB5B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients